NM_152564.4:c.11251del - CAGS

NM_152564.4:c.11251del

HGVS Expressions

NG_007098.2:g.860060del
NM_152564.4:c.11251del
NP_689777.3:p.Asn3751ThrfsTer102
NC_000008.11:g.99868325del

Associated Genes

Vacuolar Protein Sorting 13, Yeast, Homolog of, B

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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

Epidemiology in the Arab World

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Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
216550.6.1	Lebanon	2	Pathogenic	Cohen Syndrome	Prokudin et al. 2015
216550.6.2	Lebanon	2	Pathogenic	Cohen Syndrome	Prokudin et al. 2015	Sibling of 216550.6.1
216550.6.3	Lebanon	1	Pathogenic		Prokudin et al. 2015	Mother of 216550.6.1
216550.6.4	Lebanon	1	Pathogenic		Prokudin et al. 2015	Father of 216550.6.1

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Contributors

Pratibha Nair: 29.06.2020

Edit History

Pratibha Nair: 21.11.2022
Rahila Mir: 17.02.2022
Pratibha Nair: 29.06.2020

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© CAGS 2025. All rights reserved.

© CAGS 2025. All rights reserved.